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Mitochondrial disorder due to a defect in mitochondrial protein synthesis

MedGen UID:
1672489
Concept ID:
C4700505
Disease or Syndrome
Synonyms: Combined oxidative phosphorylation defect; Combined OXPHOS defect; Combined OXPHOS deficiency; COXPD
 
Orphanet: ORPHA35696

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial disorder due to a defect in mitochondrial protein synthesis

Professional guidelines

PubMed

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789
Tort F, Ferrer-Cortes X, Ribes A
J Inherit Metab Dis 2016 Nov;39(6):781-793. Epub 2016 Sep 1 doi: 10.1007/s10545-016-9975-4. PMID: 27586888

Recent clinical studies

Therapy

Xie SY, Liu SQ, Zhang T, Shi WK, Xing Y, Fang WX, Zhang M, Chen MY, Xu SC, Fan MQ, Li LL, Zhang H, Zhao N, Zeng ZX, Chen S, Zeng XF, Deng W, Tang QZ
Circulation 2024 Feb 27;149(9):684-706. Epub 2023 Nov 23 doi: 10.1161/CIRCULATIONAHA.123.065603. PMID: 37994595
Jin JY, Wei XX, Zhi XL, Wang XH, Meng D
Acta Pharmacol Sin 2021 May;42(5):655-664. Epub 2020 Sep 10 doi: 10.1038/s41401-020-00518-y. PMID: 32913266Free PMC Article
Kang Q, Yang C
Redox Biol 2020 Oct;37:101799. Epub 2020 Nov 13 doi: 10.1016/j.redox.2020.101799. PMID: 33248932Free PMC Article
Macdonald R, Barnes K, Hastings C, Mortiboys H
Biochem Soc Trans 2018 Aug 20;46(4):891-909. Epub 2018 Jul 19 doi: 10.1042/BST20170501. PMID: 30026371
Cacabelos R
Int J Mol Sci 2017 Mar 4;18(3) doi: 10.3390/ijms18030551. PMID: 28273839Free PMC Article

Prognosis

Zhang Y, Wang X, Li XK, Lv SJ, Wang HP, Liu Y, Zhou J, Gong H, Chen XF, Ren SC, Zhang H, Dai Y, Cai H, Yan B, Chen HZ, Tang X
Eur Heart J 2023 Aug 1;44(29):2746-2759. doi: 10.1093/eurheartj/ehad381. PMID: 37377116Free PMC Article
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K
J Hum Genet 2019 Sep;64(9):833-847. Epub 2019 May 20 doi: 10.1038/s10038-019-0614-4. PMID: 31110235
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063

Clinical prediction guides

Martinez A, Sanchez-Martinez A, Pickering JT, Twyning MJ, Terriente-Felix A, Chen PL, Chen CH, Whitworth AJ
Mol Neurodegener 2024 Jan 25;19(1):12. doi: 10.1186/s13024-024-00701-3. PMID: 38273330Free PMC Article
Guhathakurta S, Erdogdu NU, Hoffmann JJ, Grzadzielewska I, Schendzielorz A, Seyfferth J, Mårtensson CU, Corrado M, Karoutas A, Warscheid B, Pfanner N, Becker T, Akhtar A
Nat Metab 2023 Nov;5(11):1931-1952. Epub 2023 Oct 9 doi: 10.1038/s42255-023-00904-w. PMID: 37813994Free PMC Article
Radaelli E, Assenmacher CA, Verrelle J, Banerjee E, Manero F, Khiati S, Girona A, Lopez-Lluch G, Navas P, Spinazzi M
Elife 2023 Jul 28;12 doi: 10.7554/eLife.84710. PMID: 37505079Free PMC Article
Lu JJ, Wu PF, He JG, Li YK, Long LH, Yao XP, Yang JH, Chen HS, Zhang XN, Hu ZL, Chen Z, Wang F, Chen JG
Mol Psychiatry 2023 Dec;28(12):5062-5076. Epub 2023 Mar 13 doi: 10.1038/s41380-023-02008-z. PMID: 36914810
Sandvoß M, Potthast AB, von Versen-Höynck F, Das AM
Reprod Sci 2017 Apr;24(4):568-574. Epub 2016 Sep 27 doi: 10.1177/1933719116667216. PMID: 27651178

Recent systematic reviews

Tauchmannová K, Pecinová A, Houštěk J, Mráček T
Physiol Res 2024 Aug 31;73(Suppl 1):S243-S278. Epub 2024 Jul 17 doi: 10.33549/physiolres.935407. PMID: 39016153Free PMC Article
Xuan X, Ruan J, Wu C, Gao Y, Li L, Lei X
CNS Neurosci Ther 2024 Mar;30(3):e14425. Epub 2023 Nov 6 doi: 10.1111/cns.14425. PMID: 37927170Free PMC Article
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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